Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7360
Gene name	UDP-glucose pyrophosphorylase 2
Gene symbol	UGP2
Synonyms (NCBI Gene)	DEE83EIEE83SVUGP2UDPGUDPGPUDPGP2UGP1UGPP1UGPP2pHC379
Chromosome	2
Chromosome location	2p15
Summary	The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct p

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs768305634	A>G	Pathogenic	5 prime UTR variant, missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, initiator codon variant, intron variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000916	hsa-miR-15a-5p	Microarray	18362358
MIRT000915	hsa-miR-16-5p	Microarray	18362358
MIRT016507	hsa-miR-193b-3p	Proteomics	21512034
MIRT028292	hsa-miR-32-5p	Sequencing	20371350
MIRT044323	hsa-miR-106b-5p	CLASH	23622248
MIRT303063	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT303063	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1473272	hsa-miR-151-3p	CLIP-seq
MIRT1473273	hsa-miR-217	CLIP-seq
MIRT1473274	hsa-miR-218	CLIP-seq
MIRT1473275	hsa-miR-3140-3p	CLIP-seq
MIRT1473276	hsa-miR-3658	CLIP-seq
MIRT1473277	hsa-miR-4328	CLIP-seq
MIRT1473278	hsa-miR-4418	CLIP-seq
MIRT1473279	hsa-miR-4422	CLIP-seq
MIRT1473280	hsa-miR-509-3-5p	CLIP-seq
MIRT1473281	hsa-miR-509-5p	CLIP-seq
MIRT1473282	hsa-miR-548n	CLIP-seq
MIRT1473283	hsa-miR-548t	CLIP-seq
MIRT1473284	hsa-miR-636	CLIP-seq
MIRT1473285	hsa-miR-1245	CLIP-seq
MIRT1473286	hsa-miR-3609	CLIP-seq
MIRT1473287	hsa-miR-3973	CLIP-seq
MIRT1473288	hsa-miR-4457	CLIP-seq
MIRT1473289	hsa-miR-513b	CLIP-seq
MIRT1473290	hsa-miR-520g	CLIP-seq
MIRT1473291	hsa-miR-520h	CLIP-seq
MIRT1473292	hsa-miR-548ah	CLIP-seq
MIRT1473285	hsa-miR-1245	CLIP-seq
MIRT2363082	hsa-miR-1304	CLIP-seq
MIRT2363083	hsa-miR-203	CLIP-seq
MIRT2363084	hsa-miR-2467-5p	CLIP-seq
MIRT2363085	hsa-miR-3188	CLIP-seq
MIRT1473286	hsa-miR-3609	CLIP-seq
MIRT1473287	hsa-miR-3973	CLIP-seq
MIRT2363086	hsa-miR-3975	CLIP-seq
MIRT1473288	hsa-miR-4457	CLIP-seq
MIRT2363087	hsa-miR-485-5p	CLIP-seq
MIRT1473289	hsa-miR-513b	CLIP-seq
MIRT1473290	hsa-miR-520g	CLIP-seq
MIRT1473291	hsa-miR-520h	CLIP-seq
MIRT1473292	hsa-miR-548ah	CLIP-seq
MIRT2363088	hsa-miR-548l	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003983	Function	UTP:glucose-1-phosphate uridylyltransferase activity	IBA
GO:0003983	Function	UTP:glucose-1-phosphate uridylyltransferase activity	IDA	22132858, 31820119
GO:0003983	Function	UTP:glucose-1-phosphate uridylyltransferase activity	IEA
GO:0003983	Function	UTP:glucose-1-phosphate uridylyltransferase activity	TAS	8354390, 8631325
GO:0005515	Function	Protein binding	IPI	16189514, 17474147, 25416956, 32296183, 32814053
GO:0005536	Function	D-glucose binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005977	Process	Glycogen metabolic process	IBA
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	IMP	31820119
GO:0006011	Process	UDP-alpha-D-glucose metabolic process	IBA
GO:0006011	Process	UDP-alpha-D-glucose metabolic process	IDA	8354390, 8631325, 22132858
GO:0006011	Process	UDP-alpha-D-glucose metabolic process	IEA
GO:0006011	Process	UDP-alpha-D-glucose metabolic process	IMP	31820119
GO:0006011	Process	UDP-alpha-D-glucose metabolic process	TAS	8631325
GO:0006065	Process	UDP-glucuronate biosynthetic process	IEA
GO:0007420	Process	Brain development	IMP	31820119
GO:0015980	Process	Energy derivation by oxidation of organic compounds	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0019255	Process	Glucose 1-phosphate metabolic process	IEA
GO:0032557	Function	Pyrimidine ribonucleotide binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21988832, 25416956, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0051748	Function	UTP-monosaccharide-1-phosphate uridylyltransferase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070569	Function	Uridylyltransferase activity	IEA

MIM	HGNC	e!Ensembl
191760	12527	ENSG00000169764

Q16851

Protein name

UTP--glucose-1-phosphate uridylyltransferase (EC 2.7.7.9) (UDP-glucose pyrophosphorylase) (UDPGP) (UGPase)

Protein function

UTP--glucose-1-phosphate uridylyltransferase catalyzing the conversion of glucose-1-phosphate into UDP-glucose, a crucial precursor for the production of glycogen. {ECO:0000269|PubMed:31820119, ECO:0000269|PubMed:8354390, ECO:0000269|PubMed:8631

PDB

3R2W , 3R3I , 4R7P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01704	UDPGP	55 → 473	UTP--glucose-1-phosphate uridylyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in various brain regions. Expressed in amygdala, anterior cingulate cortex, caudate, cerebellar hemisphere, cerebellum, cortex, frontal cortex, hippocampus, hypothalamus, nucleus accumbens, putamen, spinal cord and sub

Sequence

MSRFVQDLSKAMSQDGASQFQEVIRQELELSVKKELEKILTTASSHEFEHTKKDLDGFRK
LFHRFLQEKGPSVDWGKIQRPPEDSIQPYEKIKARGLPDNISSVLNKLVVVKLNGGLGTS
MGCKGPKSLIGVRNENTFLDLTVQQIEHLNKTYNTDVPLVLMNSFNTDEDTKKILQKYNH
CRVKIYTFNQSRYPRINKESLLPVAKDVSYSGENTEAWYPPGHGDIYASFYNSGLLDTFI
GEGKEYIFVSNIDNLGATVDLYILNHLMNPPNGKRCEFVMEVTNKTRADVKGGTLTQYEG
KLRLVEIAQVPKAHVDEFKSVSKFKIFNTNNLWISLAAVKRLQEQNAIDMEIIVNAKTLD
GGLNVIQLETAVGAAIKSFENSLGINVPRSRFLPVKTTSDLLLVMSNLYSLNAGSLTMSE
KREFPTVPLVKLGSSFTKVQDYLRRFESIPDMLELDHLTVSGDVTFGKNVSLKGTVIIIA
NHGDRIDIPPGAVLENKIVSGNLRILDH

Sequence length

508

Interactions

View interactions

	KEGG		Reactome
	Pentose and glucuronate interconversions Galactose metabolism Starch and sucrose metabolism Amino sugar and nucleotide sugar metabolism Biosynthesis of various nucleotide sugars Metabolic pathways Biosynthesis of cofactors Biosynthesis of nucleotide sugars		Formation of the active cofactor, UDP-glucuronate Glycogen synthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
D-6618	Likely pathogenic; Pathogenic	rs768305634	RCV002273831	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 83	Likely pathogenic; Pathogenic	rs768305634	RCV000993844	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UGP2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brain Neoplasms	Brain neoplasms	Pubtator	29347944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29371291, 32733617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29347944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	29347944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical galactosemia	Galactosemia	BEFREE	27466186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37174719	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31820119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31820119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	BEFREE	27466186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30816613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30816613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30816613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31820119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	29347944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31820119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21760593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24946162, 29228655, 30014619, 30131857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29347944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29228655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29347944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29228655, 29347944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31401873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29347944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	29347944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	29347944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	15215745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30320481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	29347944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UGP2 (UDP-glucose pyrophosphorylase 2)